Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma
2014; Oxford University Press; Volume: 100; Issue: 1 Linguagem: Inglês
10.1210/jc.2014-2648
ISSN1945-7197
AutoresUlf Elbelt, Alessia Trovato, Michael Kloth, Enno Gentz, R. Finke, Joachim Spranger, David J. Galas, Susanne N. Weber, Cristina Wolf, Katharina König, Wiebke Arlt, Reinhard Büttner, Patrick May, Bruno Allolio, Jochen G. Schneider,
Tópico(s)Pituitary Gland Disorders and Treatments
ResumoContext:Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, which may present in the context of different familial multitumor syndromes. Heterozygous inactivating germline mutations of armadillo repeat containing 5 (ARMC5) have very recently been described as cause for sporadic PMAH. Whether this genetic condition also causes familial PMAH in association with other neoplasias is unclear.
Referência(s)